Variant report

Variant	rs78069454
Chromosome Location	chr5:59977262-59977263
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:59976157..59978303-chr5:59980094..59983522,3	K562	blood:
2	chr5:59943723..59945497-chr5:59975521..59977784,2	MCF-7	breast:
3	chr5:59975344..59978303-chr5:59980316..59982465,2	K562	blood:
4	chr5:59974810..59977712-chr5:59994412..59996094,2	K562	blood:
5	chr5:59972368..59974119-chr5:59975608..59977854,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000035499	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv492277	chr5:59905195-60180834	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv462198	chr5:59969015-60116613	Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv598298	chr5:59969015-60116613	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1023403	chr5:59969534-60079822	Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv4850	chr5:59976186-60039810	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv968833	chr5:59976941-59986267	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59933600-59981000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:59954000-59980200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:59956800-59981800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr5:59962600-59980000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:59962600-59980800	Weak transcription	Fetal Thymus	thymus
6	chr5:59962600-59981000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:59962600-59981600	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:59962600-59985600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr5:59962600-59986800	Weak transcription	Fetal Stomach	stomach
10	chr5:59962600-59990000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:59962800-59978600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:59962800-59978800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:59966000-59988800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:59967400-59981800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:59968000-59978800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:59968000-59981800	Weak transcription	Thymus	Thymus
17	chr5:59969400-59981400	Weak transcription	GM12878-XiMat	blood
18	chr5:59969600-59984000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:59969600-59994800	Weak transcription	Fetal Lung	lung
20	chr5:59970400-59980600	Weak transcription	K562	blood
21	chr5:59970600-59980800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:59970600-59981600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:59971000-59993800	Weak transcription	NHLF	lung
24	chr5:59971000-59994000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:59971000-59994200	Weak transcription	NH-A	brain
26	chr5:59971200-59980800	Weak transcription	Placenta	Placenta
27	chr5:59971200-59981800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:59972400-59983200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:59973000-59984200	Weak transcription	Small Intestine	intestine
30	chr5:59973200-59985400	Weak transcription	HMEC	breast
31	chr5:59973600-59986000	Weak transcription	Primary B cells from cord blood	blood
32	chr5:59973800-59980800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:59973800-59986600	Weak transcription	Osteobl	bone
34	chr5:59974000-59980400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr5:59974000-59980400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:59974000-59981600	Weak transcription	NHEK	skin
37	chr5:59974200-59981000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:59974200-59984200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:59974200-59994200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr5:59974400-59993600	Weak transcription	Hela-S3	cervix
41	chr5:59975000-59980200	Weak transcription	HepG2	liver
42	chr5:59975400-59983800	Weak transcription	A549	lung
43	chr5:59975600-59978800	Weak transcription	Dnd41	blood
44	chr5:59976600-59980800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:59977000-59977600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr5:59977000-59977800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr5:59977200-59977400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr5:59977200-59977400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr5:59977200-59977600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr5:59977200-59977600	Genic enhancers	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links